rs598493

This is a regulatory region variant variant in the TNFAIP3 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

psoriasis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 9.0e-15
N 629,965
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association of TNFAIP3 polymorphism with rheumatic heart disease in Chinese Han population
AssociationN=717Rong Hua et al.(2009)· Immunogenetics

A pair-matched case-control study (239 cases, 478 controls) in the Chinese Han population identified rs582757 in the TNFAIP3 gene as associated with reduced risk of rheumatic heart disease (RHD). The minor C allele showed a per-allele odds ratio of 0.57 (95% CI 0.42-0.78, p=0.000) in the additive model and a 0.54-fold reduced risk under the dominant model. No significant associations were found for SNPs in the TRAF1 or C5 genes.

Traits studied:Rheumatic heart disease
PubMedDOIMetascience Observatory

About TNFAIP3

This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]

View all TNFAIP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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